ACTC1

From Wikipedia, the free encyclopedia

Actin, alpha, cardiac muscle 1

PDB rendering based on 1atn.

Available structures: 1atn, 1c0g, 1d4x, 1dej, 1eqy, 1esv, 1h1v, 1hlu, 1ijj, 1j6z, 1kxp, 1lcu, 1lot, 1m8q, 1ma9, 1mdu, 1mvw, 1nlv, 1nm1, 1nmd, 1nwk, 1o18, 1o19, 1o1a, 1o1b, 1o1c, 1o1d, 1o1e, 1o1f, 1o1g, 1p8z, 1qz5, 1qz6, 1rdw, 1rfq, 1rgi, 1s22, 1sqk, 1t44, 1wua, 1y64, 1yxq, 2a3z, 2a40, 2a41, 2a42, 2a5x, 2asm, 2aso, 2asp, 2btf, 2d1k, 2ff3, 2ff6, 2fxu, 2gwj, 2gwk, 2hf3, 2hf4, 2hmp, 2oan, 2q1n, 2q31, 2q36

Identifiers

Symbol(s)

ACTC1; ACTC; CMD1R

External IDs

OMIM: 102540 MGI: 87905 HomoloGene: 68446

Gene ontology
Molecular Function:	• nucleotide binding • protein binding • ATP binding • structural constituent of muscle
Cellular Component:	• cytoskeleton • actin filament
Biological Process:	• muscle contraction • regulation of heart contraction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005159 (mRNA)
NP_005150 (protein)

XM_001002645 (mRNA)
XP_001002645 (protein)

Location

Chr 15: 32.87 - 32.88 Mb

Chr 2: 113.74 - 113.74 Mb

Pubmed search

[1]

[2]

Actin, alpha, cardiac muscle 1, also known as ACTC1, is a human gene.^[1]

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).^[1]

[edit] References

^ ^a ^b Entrez Gene: ACTC1 actin, alpha, cardiac muscle 1.

[edit] Further reading

Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease.". Folia Biol. (Praha) 42 (5): 227–30. PMID 8997639.
Bearer EL, Prakash JM, Li Z (2002). "Actin dynamics in platelets.". Int. Rev. Cytol. 217: 137–82. PMID 12019562.
Elzinga M, Maron BJ, Adelstein RS (1976). "Human heart and platelet actins are products of different genes.". Science 191 (4222): 94–5. PMID 1246600.
Adams LD, Tomasselli AG, Robbins P, et al. (1992). "HIV-1 protease cleaves actin during acute infection of human T-lymphocytes.". AIDS Res. Hum. Retroviruses 8 (2): 291–5. PMID 1540415.
Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.". J. Infect. 24 (3): 317–20. PMID 1602151.
Kramer PL, Luty JA, Litt M (1992). "Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q.". Genomics 13 (3): 904–5. PMID 1639426.
Watkins C, Bodfish P, Warne D, et al. (1992). "Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction.". Nucleic Acids Res. 19 (24): 6980. PMID 1762945.
Tomasselli AG, Hui JO, Adams L, et al. (1991). "Actin, troponin C, Alzheimer amyloid precursor protein and pro-interleukin 1 beta as substrates of the protease from human immunodeficiency virus.". J. Biol. Chem. 266 (22): 14548–53. PMID 1907279.
Shoeman RL, Kesselmier C, Mothes E, et al. (1991). "Non-viral cellular substrates for human immunodeficiency virus type 1 protease.". FEBS Lett. 278 (2): 199–203. PMID 1991513.
Buckingham M, Alonso S, Barton P, et al. (1987). "Actin and myosin multigene families: their expression during the formation and maturation of striated muscle.". Am. J. Med. Genet. 25 (4): 623–34. doi:10.1002/ajmg.1320250405. PMID 3789022.
Engel JN, Gunning PW, Kedes L (1982). "Isolation and characterization of human actin genes.". Proc. Natl. Acad. Sci. U.S.A. 78 (8): 4674–8. PMID 6272269.
Humphries SE, Whittall R, Minty A, et al. (1982). "There are approximately 20 actin gene in the human genome.". Nucleic Acids Res. 9 (19): 4895–908. PMID 6273789.
Hamada H, Petrino MG, Kakunaga T (1983). "Molecular structure and evolutionary origin of human cardiac muscle actin gene.". Proc. Natl. Acad. Sci. U.S.A. 79 (19): 5901–5. PMID 6310553.
Gunning P, Ponte P, Kedes L, et al. (1984). "Chromosomal location of the co-expressed human skeletal and cardiac actin genes.". Proc. Natl. Acad. Sci. U.S.A. 81 (6): 1813–7. PMID 6584914.
Gunning P, Ponte P, Blau H, Kedes L (1984). "alpha-skeletal and alpha-cardiac actin genes are coexpressed in adult human skeletal muscle and heart.". Mol. Cell. Biol. 3 (11): 1985–95. PMID 6689196.
Ueyama H, Inazawa J, Ariyama T, et al. (1995). "Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization.". Jpn. J. Hum. Genet. 40 (1): 145–8. PMID 7780165.
Moroianu J, Riordan JF (1994). "Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity.". Proc. Natl. Acad. Sci. U.S.A. 91 (5): 1677–81. PMID 8127865.
Dunwoodie SL, Joya JE, Arkell RM, Hardeman EC (1994). "Multiple regions of the human cardiac actin gene are necessary for maturation-based expression in striated muscle.". J. Biol. Chem. 269 (16): 12212–9. PMID 8163527.
Shuster CB, Lin AY, Nayak R, Herman IM (1997). "Beta cap73: a novel beta actin-specific binding protein.". Cell Motil. Cytoskeleton 35 (3): 175–87. doi:10.1002/(SICI)1097-0169(1996)35:3<175::AID-CM1>3.0.CO;2-8. PMID 8913639.